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13 May 2015 - Case of the Week #352

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(1) We have now posted the 2014 Jobs Report summary, click here. It is also available from going to the Jobs page, then click on Pathologist Jobs Report, then click on 2014 summary.

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Case of the Week #352

Clinical History:
The pathologist received a morcellated myomectomy specimen from a 38 year old woman with leiomyomas.

Micro images:

What is your diagnosis?

Atypical leiomyoma, with features suggestive of hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC)

The key H&E morphologic features of this case include:
HLRCC is an autosomal dominant syndrome due to germline mutations in the fumarate hydratase (FH) gene, a Kreb's cycle component, see Renal cell carcinoma-general. Syndromic patients are at risk for cutaneous and uterine leiomyomas, often presenting at a relatively young age, as well as an aggressive papillary type renal cell carcinoma (Am J Hum Genet 2003;73:95). A high level of fumarate, which accumulates in HLRCC tumor cells, causes aberrant succination of cellular proteins by forming a stable chemical modification, S-(2-succino)-cysteine (2SC), which can be detected by immunohistochemistry, and is useful to differentiate HLRCC renal tumors from other high grade renal cell carcinomas (Am J Surg Pathol 2014;38:627). In this case, 2SC IHC was positive (image not available).

For nonsyndromic patients, atypical leiomyoma has a low recurrence rate (< 2%) with a negligible risk for distant metastasis. Myomectomy is adequate treatment, with follow up for local intrauterine residual / recurrent disease (Am J Surg Pathol 2013;37:643). Awareness of the morphologic features of HLRCC associated with symplastic / atypical / bizarre leiomyoma is important, because many patients lack a positive family history due to incomplete or variable penetrance, and the pathology report may lead to mutational testing and genetic counseling. For syndromic patients, annual surveillance by MRI is recommended beginning at age 8 years to detect the aggressive renal cell carcinoma (Int J Nephrol Renovasc Dis 2014;7:253).

Reference on morcellated specimens: Hum Pathol 2014;45:2311

Nat Pernick, M.D., President
and Shivani Thakore, Associate Medical Editor
PathologyOutlines.com, Inc.
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